Nicola Brunetti‐Pierri

The paper identifies distinct mechanisms of CNV formation at the human 15q13.3 locus, showing that non-allelic homologous recombination is the primary mechanism, influenced by inversion polymorphisms and population-specific susceptibility.

The paper identifies small molecules that enhance gene expression in synthetic circuits by analyzing RNA-seq data and drug-induced profiles.

This study shows that activating autophagy via Beclin-1 improves biochemical and clinical outcomes in two types of urea cycle disorders.

The paper identifies the CHOP-c-JUN complex as a key driver of liver proteotoxicity in AAT deficiency by enhancing SERPINA1 transcription and ATZ accumulation.

The paper identifies degron variants in AFF3 causing a multi-system disorder with specific clinical features and demonstrates phenotypic overlap with AFF4-related syndromes.

gene2drug prioritizes drugs based on their impact on transcriptional pathways of target genes, validated both computationally and experimentally for two drug repositioning cases.